What is Progeria?

Progeria is the
term for a group of disorders that cause rapid aging in children. Most common
is the fatal Hutchinson-Gilford Progeria Syndrome (HGPS). This is a rare
condition affecting a specific gene. Progeria in Greek translates to
“prematurely old.” Kids with progeria live to an average thirteen-years-old.

The adult
version of progeria syndrome is Werner Syndrome. Symptoms normally occur in
teenagers. Affected people may live into their 40s or 50s.

Wiedemann-Rautenstrauch
syndrome is another progeroid syndrome. It is hereditary and appears in
children while they are still in utero. Symptoms are clear at birth for these
children.

Progeria is very
rare and affects only one in four to eight million kids. The Progeria Research
Foundation says there are 200-250 kids living with the syndrome at any given
time. Progeria affects children regardless of gender or ethnicity.

What Causes Progeria?

Progeria is
caused by a genetic mutation. The mutation occurs in the gene LMNA, which is
responsible for producing a protein that helps maintain the structural
integrity of the nucleus in cells. Without strength in the nucleus, the cell
structure is weak and leads to rapid aging, or progeria.

While the
syndrome affects the genes, or is genetic, it is not thought to be hereditary.
Parents who have one child affected with progeria do have a higher chance of
having another. This is because one parent could have the progeria mutation in
some, but not all, of their cells. Other progeroid syndromes may be hereditary,
but HGPS, specifically, is not.

Symptoms of Progeria

The symptoms of
progeria normally begin to appear before or around the child’s first birthday. Children
with progeria are born looking like healthy babies, but begin to age rapidly
from there. Children with progeria fail to develop in height and weight and
lose body fat. They also typically lose hair, develop visible scalp veins, and
have stiff joints. Their skin often looks aged or worn, with protruding eyes
and thin lips. They easily dislocate hips, and eventually suffer from heart
disorders and stroke. It is very common for children with progeria to develop
hardening in their arteries, or atherosclerosis. Children with progeria,
although changing in appearance, have motor development typical of their age.

Diagnosing Progeria

To diagnose
progeria, a child’s doctor will first do a physical examination. If progeria is
suspected based on appearance, a blood test is administered to check for a
mutation of the specific gene responsible for progeria. If your child doesn’t
appear to be growing or developing normally, see your doctor.

Treating Progeria

There is no
known treatment for progeria at this time. Ongoing research has identified some
promising drug options.

Some children
with progeria receive treatment for complications from the disease, such as
hardened arteries. These treatments include aspirin regime, medications (such
as coagulants and statins) or physical therapy.

Progeria Prognosis

Progeria is a
fatal syndrome. Most affected children eventually die from heart disease.
Progeria sufferers have a genetic predisposition to heart disease. The average
lifespan for progeria is thirteen, although some live into their 20s.